Katherine R. Chao

A genomic mutational constraint map using variation in 76,156 human genomes

Siwei Chen, Laurent C. Francioli, Julia K. Goodrich et al. · Nature · 2023 · 1.1K citations · Full text

Medicine, Genetics, Evolutionary Biology +8

Systematic single-variant and gene-based association testing of thousands of phenotypes in 394,841 UK Biobank exomes

Konrad J. Karczewski, Matthew Solomonson, Katherine R. Chao et al. · Cell Genomics · 2022 · 275 citations · Full text

Genome-wide Association Study, Genetic Analysis, Functional Genomics +13

The Genetic Landscape of Diamond-Blackfan Anemia

Jacob C. Ulirsch, Jeffrey M. Verboon, Shideh Kazerounian et al. · The American Journal of Human Genetics · 2018 · 256 citations · Full text

Biology, Genetic Landscape, Medicine +5

MARRVEL: Integration of Human and Model Organism Genetic Resources to Facilitate Functional Annotation of the Human Genome

Julia Wang, Rami Al‐Ouran, Yanhui Hu et al. · The American Journal of Human Genetics · 2017 · 217 citations · Full text

The Undiagnosed Diseases Network: Accelerating Discovery about Health and Disease

Rachel Ramoni, John J. Mulvihill, David R. Adams et al. · The American Journal of Human Genetics · 2017 · 181 citations · Full text

Disease Diagnosis, Network Science, Health Informatics +12